Mutations affecting proteins involved in membrane trafficking underlie a range of heterogeneous genetic diseases. Indeed, membrane trafficking defects underlie a number of immunodeficiencies including familial haemophagocytic lymphohistiocytosis (FHL3-5), Griscelli syndrome (GS2), Hermansky -Pudlak syndrome and Chédiak -Higashi syndromes (CHS2), characterized by disturbed biogenesis and transport of lysosome-related organelles (LROs). LRO formation and membrane trafficking processes, in general, are not only important in lymphocytes, but in all cell types within the body. This ubiquity leads to the variable combination of different clinical manifestations observed in genetic diseases that interfere with different parts of this pathway. We are only just beginning to understand the specific immunological defects which arise as a result of membrane trafficking deficiencies. Furthermore, as whole exome and whole genome sequencing are evolving, new candidate proteins are being identified which likely influence membrane trafficking processes and lysosome-related organelle machinery leading to immunodeficiencies.
We aim to deepen the understanding of the important role of membrane trafficking processes underlying human immunity. In particular, we will focus on the biogenesis of LROs, their exocytosis mechanisms and mechanisms of immunodeficiency arising from LRO dysfunction. We are interested in detailed mechanistic studies of proteins with known immunological roles such as Rab27a, syntaxin11, Munc18-2 and Munc13-4 in immune cells and other cell types. Furthermore, we welcome studies describing previously undescribed proteins with roles in membrane trafficking supporting immune function, preferably in blood cells/immune cells. We are primarily interested in studies within the following areas: i) How transport and exocytosis defects of secretory granules/LROs cause immunodeficiencies, ii) Defining the molecular mechanisms of cellular pathogenesis arising from mutations in membrane trafficking machinery, iii) immunodeficiencies arising from membrane trafficking defects with effects beyond LROs.
We welcome authors to submit Original Research, Review and Case Reports focusing membrane trafficking in immunodeficiencies, including:
· Immunodeficiencies caused by failed or wrong membrane trafficking
· Describing proteins, cell biological mechanisms and membrane trafficking
· Explaining membrane trafficking in immunology
· Research articled of proteins, which Proteins that are known to cause immunodeficiencies, such as mutations in Munc13-4, but can be shown to have other or similar functions in other cell types.
Mutations affecting proteins involved in membrane trafficking underlie a range of heterogeneous genetic diseases. Indeed, membrane trafficking defects underlie a number of immunodeficiencies including familial haemophagocytic lymphohistiocytosis (FHL3-5), Griscelli syndrome (GS2), Hermansky -Pudlak syndrome and Chédiak -Higashi syndromes (CHS2), characterized by disturbed biogenesis and transport of lysosome-related organelles (LROs). LRO formation and membrane trafficking processes, in general, are not only important in lymphocytes, but in all cell types within the body. This ubiquity leads to the variable combination of different clinical manifestations observed in genetic diseases that interfere with different parts of this pathway. We are only just beginning to understand the specific immunological defects which arise as a result of membrane trafficking deficiencies. Furthermore, as whole exome and whole genome sequencing are evolving, new candidate proteins are being identified which likely influence membrane trafficking processes and lysosome-related organelle machinery leading to immunodeficiencies.
We aim to deepen the understanding of the important role of membrane trafficking processes underlying human immunity. In particular, we will focus on the biogenesis of LROs, their exocytosis mechanisms and mechanisms of immunodeficiency arising from LRO dysfunction. We are interested in detailed mechanistic studies of proteins with known immunological roles such as Rab27a, syntaxin11, Munc18-2 and Munc13-4 in immune cells and other cell types. Furthermore, we welcome studies describing previously undescribed proteins with roles in membrane trafficking supporting immune function, preferably in blood cells/immune cells. We are primarily interested in studies within the following areas: i) How transport and exocytosis defects of secretory granules/LROs cause immunodeficiencies, ii) Defining the molecular mechanisms of cellular pathogenesis arising from mutations in membrane trafficking machinery, iii) immunodeficiencies arising from membrane trafficking defects with effects beyond LROs.
We welcome authors to submit Original Research, Review and Case Reports focusing membrane trafficking in immunodeficiencies, including:
· Immunodeficiencies caused by failed or wrong membrane trafficking
· Describing proteins, cell biological mechanisms and membrane trafficking
· Explaining membrane trafficking in immunology
· Research articled of proteins, which Proteins that are known to cause immunodeficiencies, such as mutations in Munc13-4, but can be shown to have other or similar functions in other cell types.
